Art

J-GLOBAL ID：201602251846382247   Reference number：16A1271598

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

MIRAGE症候群:SAMD9変異は,新規の全身性疾患であるMIRAGE症候群を引き起こし,7番染色体の欠失に関わる

Author (39)： NARUMI Satoshi (Keio Univ. School of Medicine, Tokyo, JPN) ,  AMANO Naoko (Keio Univ. School of Medicine, Tokyo, JPN) ,  ISHII Tomohiro (Keio Univ. School of Medicine, Tokyo, JPN) ,  HASEGAWA Tomonobu (Keio Univ. School of Medicine, Tokyo, JPN) ,  KATSUMATA Noriyuki (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  FUKAMI Maki (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  MUROYA Koji (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  ADACHI Masanori (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  TOYOSHIMA Katsuaki (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  TANAKA Yukichi (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  FUKUZAWA Ryuji (Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN) ,  MIYAKO Kenichi (Fukuoka Children’s Hospital, Fukuoka, JPN) ,  KINJO Saori (Okinawa Prefectural Chubu Hospital, Okinawa, JPN) ,  OHGA Shouichi (Kyushu Univ., Fukuoka, JPN) ,  IHARA Kenji (Kyushu Univ., Fukuoka, JPN) ,  INOUE Hirosuke (Kyushu Univ., Fukuoka, JPN) ,  KINJO Tadamune (Kyushu Univ., Fukuoka, JPN) ,  HARA Toshiro (Kyushu Univ., Fukuoka, JPN) ,  KOHNO Miyuki (Gunma Univ. Graduate School of Medicine, Gunma, JPN) ,  YAMADA Shiro (Gunma Univ. Graduate School of Medicine, Gunma, JPN) ,  URANO Hironaka (Gunma Children’s Medical Center, Gunma, JPN) ,  KITAGAWA Yosuke (Hirosaki Univ. Graduate School of Medicine, Aomori, JPN) ,  TSUGAWA Koji (Ohdate Municipal Hospital, Ohdate, JPN) ,  HIGA Asumi (Wakayama Medical Univ., Wakayama, JPN) ,  MIYAWAKI Masakazu (Wakayama Medical Univ., Wakayama, JPN) ,  OKUTANI Takahiro (Wakayama Medical Univ., Wakayama, JPN) ,  KIZAKI Zenro (Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, JPN) ,  HAMADA Hiroyuki (Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, JPN) ,  KIHARA Minako (Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, JPN) ,  SHIGA Kentaro (Yokohama City Univ. Medical Center, Yokohama, JPN) ,  YAMAGUCHI Tetsuya (Yokohama City Univ. Medical Center, Yokohama, JPN) ,  KENMOCHI Manabu (Kitasato Univ. School of Medicine, Sagamihara, JPN) ,  KITAJIMA Hiroyuki (Osaka Medical Center and Res. Inst. for Maternal and Child Health, Osaka, JPN) ,  SHIMIZU Atsushi (Iwate Medical Univ., Iwate, JPN) ,  KUDOH Jun (Keio Univ. School of Medicine, Tokyo, JPN) ,  SHIBATA Shinsuke (Keio Univ. School of Medicine, Tokyo, JPN) ,  OKANO Hideyuki (Keio Univ. School of Medicine, Tokyo, JPN) ,  MIYAKE Noriko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MATSUMOTO Naomichi (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
Material： Nature Genetics  (Nat Genet)
Volume： 48  Issue： 7  Page： 792-797  Publication year： Jul. 2016 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,  human ,  congenital disease ,  adrenal gland disease ,  myelodysplastic syndrome ,  *autosome ,  *Proteins ,  *Mutation ,  exon ,  nucleotide sequence ,  mutant ,  wild type ,  gene expression ,  Endosomes ,  fibroblast ,  Cell Membrane ,  EGF receptor ,  deletion mutation ,  *chromosome 7 ,  molecular genetic phenomenon ,  membrane and film ,  biomembrane ,  Endomembrane system ,  Vesicles
Semi thesaurus term： *MIRAGE症候群 ,  Congenital adrenal gland hypoplasia ,  *SAMD9

JST classification (3)： Congenital diseases,deformities in general.  (GD03010V) ,  Structure and chemistry of genes  (EC02020U) ,  Proteins and peptides in general  (EB03010N)

Terms in the title (5)： MIRAGE症候群 ,  変異 ,  全身性疾患 ,  7番染色体 ,  欠失